Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.
Mansoor S et al.
Molecular Biology Reports, 2024
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.
Yin Z et al.
European Journal of Medical Research, 2024
A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype.
Zhang X et al.
Heliyon, 2024
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
Liang L et al.
Journal of Medical Genetics, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L et al.
Orphanet Journal of Rare Diseases, 2021
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.
Han B et al.
Pediatrics and Neonatology, 2020
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
Habibzadeh P et al.
Bmc Medical Genetics, 2020
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Y et al.
Journal of Neurology, 2019
[Clinical features and gene mutation spectrum in children with sideroblastic anemia].
An WB et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.
Tanacan A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
Kumari C et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2017
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P et al.
Human Mutation, 2016
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J et al.
Molecular Genetics and Metabolism, 2016
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F et al.
Jimd Reports, 2016
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
Han LS et al.
World Journal of Pediatrics : Wjp, 2015
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Forny P et al.
Human Mutation, 2014
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Cosson MA et al.
Molecular Genetics and Metabolism, 2009
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Wang F et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
[Clinical and mutational study of a Chinese infant with isovaleric acidemia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
[Gene mutation analysis in patients with propionic acidemia].
Hu YH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Sakamoto O et al.
Journal of Human Genetics, 2007
Three novel and six common mutations in 11 patients with methylmalonic acidemia.
Kobayashi A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2006
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan LC et al.
Human Mutation, 2006
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C et al.
Human Mutation, 2005
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
Fuchshuber A et al.
Human Mutation, 2000
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
Janata J et al.
Human Molecular Genetics, 1997
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
Ledley FD et al.
Human Mutation, 1997
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
Thomä NH et al.
Protein Science : a Publication of the Protein Society, 1996
Inherited disorders of cobalamin metabolism.
Qureshi AA et al.
Critical Reviews in Oncology/hematology, 1994
Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
Crane AM et al.
American Journal of Human Genetics, 1994
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
Qureshi AA et al.
The Journal of Clinical Investigation, 1994
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
Crane AM et al.
The Journal of Clinical Investigation, 1992